Aliases for PINX1 Gene

Aliases for PINX1 Gene

  • PIN2 (TERF1) Interacting Telomerase Inhibitor 1 2 3 5
  • Liver-Related Putative Tumor Suppressor 2 3 4
  • LPTL 2 3 4
  • LPTS 2 3 4
  • PIN2/TERF1-Interacting Telomerase Inhibitor 1 3 4
  • Pin2-Interacting Protein X1 3 4
  • TRF1-Interacting Protein 1 3 4
  • Protein 67-11-3 3 4
  • Gno1 2 3
  • Pxr1 2 3
  • Hepatocellular Carcinoma-Related Putative Tumor Suppressor 3
  • PIN2/TERF1 Interacting Telomerase Inhibitor 1 2
  • PIN2 Interacting Protein 1 2
  • PIN2-Interacting Protein 1 3
  • 67-11-3 Protein 3
  • FLJ20565 2
  • MGC8850 2
  • PINX1 5

External Ids for PINX1 Gene

Previous GeneCards Identifiers for PINX1 Gene

  • GC08M010685
  • GC08M010493
  • GC08M010659
  • GC08M009553
  • GC08M010764

Summaries for PINX1 Gene

GeneCards Summary for PINX1 Gene

PINX1 (PIN2 (TERF1) Interacting Telomerase Inhibitor 1) is a Protein Coding gene. Diseases associated with PINX1 include Inflammatory Bowel Disease 22 and Colon Small Cell Carcinoma. Among its related pathways are Regulation of Telomerase. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and telomerase RNA binding. An important paralog of this gene is SOX7.

UniProtKB/Swiss-Prot Summary for PINX1 Gene

  • Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor.

Gene Wiki entry for PINX1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PINX1 Gene

Genomics for PINX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PINX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PINX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PINX1

Top Transcription factor binding sites by QIAGEN in the PINX1 gene promoter:
  • AML1a
  • AP-4
  • CUTL1
  • FOXL1
  • FOXO1
  • FOXO1a
  • NF-1
  • Nkx2-5
  • RORalpha1
  • SREBP-1c

Genomic Locations for PINX1 Gene

Latest Assembly
chr8:10,725,399-10,839,875
(GRCh38/hg38)
Size:
114,477 bases
Orientation:
Minus strand

Previous Assembly
chr8:10,622,471-10,697,385
(GRCh37/hg19 by Entrez Gene)
Size:
74,915 bases
Orientation:
Minus strand

chr8:10,582,909-10,697,357
(GRCh37/hg19 by Ensembl)
Size:
114,449 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):2,507,388-2,582,240 (+)

Genomic View for PINX1 Gene

Genes around PINX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PINX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PINX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PINX1 Gene

Proteins for PINX1 Gene

  • Protein details for PINX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BK5-PINX1_HUMAN
    Recommended name:
    PIN2/TERF1-interacting telomerase inhibitor 1
    Protein Accession:
    Q96BK5
    Secondary Accessions:
    • B2R9B1
    • Q548A5
    • Q6QWG9
    • Q7Z7J8
    • Q96QD7
    • Q9HBU7
    • Q9NWW2

    Protein attributes for PINX1 Gene

    Size:
    328 amino acids
    Molecular mass:
    37035 Da
    Quaternary structure:
    • Interacts with MCRS1, TERT, TERF1, NCL/nucleolin, and the telomerase RNA.

    Alternative splice isoforms for PINX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PINX1 Gene

Post-translational modifications for PINX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PINX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PINX1 Gene

Domains & Families for PINX1 Gene

Gene Families for PINX1 Gene

Protein Domains for PINX1 Gene

InterPro:
Blocks:
  • D111/G-patch domain

Suggested Antigen Peptide Sequences for PINX1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58508, highly similar to Transcription factor SOX-7 (B4DKV0_HUMAN)
  • TRF1-interacting protein 1 (PINX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96BK5

UniProtKB/Swiss-Prot:

PINX1_HUMAN :
  • The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibit its activity.
  • Belongs to the PINX1 family.
Domain:
  • The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibit its activity.
  • The TBM domain mediates interaction with TERF1.
Family:
  • Belongs to the PINX1 family.
genes like me logo Genes that share domains with PINX1: view

Function for PINX1 Gene

Molecular function for PINX1 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor.

Phenotypes From GWAS Catalog for PINX1 Gene

Gene Ontology (GO) - Molecular Function for PINX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 11701125
GO:0010521 telomerase inhibitor activity IDA, IMP, TAS, NAS 15381700
GO:0044877 protein-containing complex binding IPI 18202258
genes like me logo Genes that share ontologies with PINX1: view
genes like me logo Genes that share phenotypes with PINX1: view

Animal Models for PINX1 Gene

MGI Knock Outs for PINX1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PINX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PINX1 Gene

Localization for PINX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PINX1 Gene

Nucleus. Nucleus, nucleolus. Chromosome, telomere. Chromosome, centromere, kinetochore. Note=Localizes in nucleoli, at telomere speckles and to the outer plate of kinetochores. Localization to the kinetochore is mediated by its central region and depends on NDC80 and CENPE.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PINX1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
  • Nuclear speckles (2)
  • Mitochondria (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PINX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 19393617
GO:0000776 kinetochore IDA 19393617
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000781 chromosome, telomeric region IDA 11701125
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PINX1: view

Pathways & Interactions for PINX1 Gene

PathCards logo

SuperPathways for PINX1 Gene

SuperPathway Contained pathways
1 Regulation of Telomerase
genes like me logo Genes that share pathways with PINX1: view

Pathways by source for PINX1 Gene

1 BioSystems pathway for PINX1 Gene

SIGNOR curated interactions for PINX1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PINX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007004 telomere maintenance via telomerase IDA 11701125
GO:0007080 mitotic metaphase plate congression IMP 19393617
GO:0008285 negative regulation of cell proliferation NAS 11003615
GO:0010972 negative regulation of G2/M transition of mitotic cell cycle IDA 11701125
GO:0031397 negative regulation of protein ubiquitination IMP 24415760
genes like me logo Genes that share ontologies with PINX1: view

Drugs & Compounds for PINX1 Gene

(1) Additional Compounds for PINX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PINX1: view

Transcripts for PINX1 Gene

mRNA/cDNA for PINX1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PINX1

Alternative Splicing Database (ASD) splice patterns (SP) for PINX1 Gene

No ASD Table

Relevant External Links for PINX1 Gene

GeneLoc Exon Structure for
PINX1

Expression for PINX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PINX1 Gene

Protein differential expression in normal tissues from HIPED for PINX1 Gene

This gene is overexpressed in Plasma (24.6), Peripheral blood mononuclear cells (23.2), and Blymphocyte (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PINX1 Gene



Protein tissue co-expression partners for PINX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PINX1

SOURCE GeneReport for Unigene cluster for PINX1 Gene:

Hs.490991

mRNA Expression by UniProt/SwissProt for PINX1 Gene:

Q96BK5-PINX1_HUMAN
Tissue specificity: Ubiquitous; expressed at low levels. Not detectable in a number of hepatocarcinoma cell lines.

Evidence on tissue expression from TISSUES for PINX1 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with PINX1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PINX1 Gene

Orthologs for PINX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PINX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 94 (a)
OneToOne
PINX1 29
  • 82.83 (n)
Cow
(Bos Taurus)
Mammalia PINX1 29
  • 80.92 (n)
-- 30
  • 71 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pinx1 29
  • 78.21 (n)
Mouse
(Mus musculus)
Mammalia Pinx1 29 16
  • 76.55 (n)
Sox7 30
  • 74 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 52 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.8197 29
Zebrafish
(Danio rerio)
Actinopterygii sox7 30
  • 45 (a)
OneToMany
pinx1 29
Fruit Fly
(Drosophila melanogaster)
Insecta Sox15 30
  • 10 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 11 (a)
OneToMany
Species where no ortholog for PINX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PINX1 Gene

ENSEMBL:
Gene Tree for PINX1 (if available)
TreeFam:
Gene Tree for PINX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PINX1: view image
Alliance of Genome Resources:
Additional Orthologs for PINX1

Paralogs for PINX1 Gene

(2) SIMAP similar genes for PINX1 Gene using alignment to 5 proteins:

  • PINX1_HUMAN
  • E5RGR1_HUMAN
  • E5RJG9_HUMAN
  • F8WBT5_HUMAN
  • H0YBF0_HUMAN
genes like me logo Genes that share paralogs with PINX1: view

Variants for PINX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PINX1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs17152322 Benign: not provided 10,765,704(-) G/C
NM_017884.6(PINX1):c.684C>G (p.Leu228=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs1078543 -- p.Ser254Cys
rs17711777 -- p.Thr220Ala
rs17855458 -- p.Arg215Ile
rs34656824 -- p.Glu315Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PINX1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PINX1 Gene

Variant ID Type Subtype PubMed ID
dgv3770n106 CNV deletion 24896259
dgv447n21 CNV gain 19592680
dgv7011n100 CNV gain 25217958
dgv7012n100 CNV loss 25217958
esv2391351 CNV deletion 18987734
esv2764105 CNV loss 21179565
esv3352454 CNV insertion 20981092
esv3572510 CNV loss 25503493
esv3891338 CNV loss 25118596
esv992953 CNV deletion 20482838
nsv1031726 CNV loss 25217958
nsv1077015 CNV deletion 25765185
nsv1112470 CNV deletion 24896259
nsv1124320 CNV deletion 24896259
nsv1132970 CNV insertion 24896259
nsv1136708 CNV deletion 24896259
nsv396674 CNV deletion 16902084
nsv475608 CNV novel sequence insertion 20440878
nsv508497 CNV deletion 20534489
nsv515946 CNV gain 19592680
nsv522226 CNV loss 19592680
nsv831232 CNV loss 17160897

Variation tolerance for PINX1 Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.85; 79.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PINX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PINX1
Leiden Open Variation Database (LOVD)
PINX1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PINX1 Gene

Disorders for PINX1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PINX1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
inflammatory bowel disease 22
  • ibd22
colon small cell carcinoma
  • colonic small cell carcinoma
hepatocellular carcinoma
  • hcc
short syndrome
  • short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search PINX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PINX1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PINX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PINX1 Gene

Publications for PINX1 Gene

  1. The Pin2/TRF1-interacting protein PinX1 is a potent telomerase inhibitor. (PMID: 11701125) Zhou XZ … Lu KP (Cell 2001) 2 3 4 22
  2. Silencing PinX1 compromises telomere length maintenance as well as tumorigenicity in telomerase-positive human cancer cells. (PMID: 19117989) Zhang B … Huang JJ (Cancer research 2009) 3 4 22
  3. Human PinX1 mediates TRF1 accumulation in nucleolus and enhances TRF1 binding to telomeres. (PMID: 19265708) Yoo JE … Park YN (Journal of molecular biology 2009) 3 4 22
  4. Characterization of interactions between PinX1 and human telomerase subunits hTERT and hTR. (PMID: 15381700) Banik SS … Counter CM (The Journal of biological chemistry 2004) 3 4 22
  5. Identification of the gene for a novel liver-related putative tumor suppressor at a high-frequency loss of heterozygosity region of chromosome 8p23 in human hepatocellular carcinoma. (PMID: 11003615) Liao C … Li T (Hepatology (Baltimore, Md.) 2000) 2 3 4

Products for PINX1 Gene

Sources for PINX1 Gene